Results 191 to 200 of about 134,576 (312)

Spinal muscular atrophy in the era of newborn screening: how the classification could change. [PDF]

Front Neurol
Varone A, Esposito G, Bitetti I.
europepmc   +1 more source

EFTUD2 Regulates Cortical Morphogenesis via Modulation of Caspase‐3 and Aifm1 Splicing Pathways

Advanced Science, EarlyView.
EFTUD2, a spliceosomal GTPase linked to MFDM, regulates cortical development through apoptotic control. Conditional Eftud2 knockout in murine neural stem cells induces microcephaly and cortical disorganization, while pathogenic variants drive neuronal loss.
Liping Chen, Ying Li, Yan Yu, Mingze Cai, Hao Li, Minghe Huang, Guochao Yang, Jiageng Guo, Huailin Wang, Zhihong Song, Wei Shen, Huihui Jiang, Haitao Wu   +12 more
wiley   +1 more source

Whole-body muscle MRI in patients with spinal muscular atrophy. [PDF]

J Neurol
Frølich SV, Receveur N, Poulsen NS, Hansen AE, Vissing J.   +4 more
europepmc   +1 more source

Ultrasound‐Responsive Piezoelectric Membrane Promotes Osteoporotic Bone Regeneration via the “Two‐Way Regulation” Bone Homeostasis Strategy

Advanced Science, EarlyView.
Patients with osteoporosis face a higher risk of bone injury, mainly due to weakened osteogenic differentiation and bone formation, along with increased osteoclast differentiation and bone resorption activity, leading to bone homeostasis imbalance.
Xinhui Wu, Tianlong Wang, Jinhui Zhao, Lei Zhang, Zhiqing Liu, Yixing Chen, Yiping Luo, Yaqi Liu, Yan Chen, Hui Jiang, Dilixiati Duolikun, Junjian Liu, Wentao Cao, Longpo Zheng   +13 more
wiley   +1 more source

Results of the Hungarian Newborn Screening Pilot Program for Spinal Muscular Atrophy. [PDF]

Int J Neonatal Screen
Hegedűs K, Lénárt I, Xue A, Monostori PB, Baráth Á, Mikos B, Udvari S, Géresi A, Szabó AJ, Bereczki C, Molnár MJ, Szatmári I.   +11 more
europepmc   +1 more source

The Immune Microenvironment: New Therapeutic Implications in Organ Fibrosis

Advanced Science, EarlyView.
This review summarizes recent advances in understanding the immune microenvironment's role in fibrosis, focusing on phenotypic/functional alterations of immune cells and their dynamic interactions with other cellular constituents within tissues. The authors further explore therapeutic opportunities and challenges in targeting immune microenvironment ...
Xiangqi Chen, Chuan Wu, Fei Tang, Jingyue Zhou, Li Mo, Yanping Li, Jinhan He   +6 more
wiley   +1 more source

Functional and structural analysis of SITTER patients with spinal muscular atrophy. [PDF]

Sci Rep
Bieniaszewska A, Sobieska M, Gajewska E.
europepmc   +1 more source

Pyroptosis‐Inducing Platinum(IV) Prodrugs via GSDME Pathway for Chemoimmunotherapy and Metastasis Inhibition in Triple‐Negative Breast Cancer

Advanced Science, EarlyView.
Three PtIV prodrugs MRP, DRP, and HRP are designed to induce pyroptosis in low GSDME‐expressing tumor cells via the Caspase‐3/GSDME pathway. By relaxing chromatin and reactivating GSDME, HRP can effectively induce pyroptosis, enhance pro‐inflammatory cytokine production, and exhibit potent antitumor effects.
Xinda Yang, Chuansheng Xu, Youliang Zeng, Chunhui Wang, Yan Gao, Jie Ding, Sirui Chen, Yuheng Pan, Xin Zhang, Zongwan Mao, Shuo Shi   +10 more
wiley   +1 more source

Neonatal spinal muscular atrophy with brain magnetic resonance imaging hypersignal: a case report. [PDF]

Front Pediatr
Jieda X, Yang C, Wu Y, Zhang R, Xu W, Dong W.   +5 more
europepmc   +1 more source

High‐Performance n‐type Organic Thermoelectric Aerogels Toward Flexible Energy Harvesting and Sensing Devices

Advanced Electronic Materials, EarlyView.
An n‐type organic thermoelectric aerogel PB@CNF, based on PBFDO, is fabricated by a two‐step freeze‐drying process with cellulose nanofiber (CNF) as substrate. The aerogels can be used not only as temperature sensing and piezoresistive sensing, but also to form a flexible organic thermoelectric generator with the p‐type aerogel (PH@CNF) based on PEDOT ...
Chan Zhang, Xi Liu, Shaobo Han, Menxing Wu, Runfeng Xiao, Shangzhi Chen, Guangming Chen   +6 more
wiley   +1 more source